INFOmaladies

Généralités


    - Les thalassémies sont des déficits quantitatifs (et non qualitatifs) de la production des chaînes alpha et ß de la globine. Les alpha-thalassémies ont peu d ’importance clinique, nous ne parlerons que des ß-thalassémies.
    - La ß-thalassémie est une maladie héréditaire monogénique.
    - Le principal foyer est asiatique
    - elle est aussi présente en Europe du Sud, en Afrique et autour de la méditerranée.
    - Il existe des doubles hétérozygoties, en particulier ß thal/S, dont la clinique est celle de la drépanocytose et ßthal/E, dont la clinique est proche de la ß thalassémie majeure.



ß Thalassémie mineure et majeure

    - Les formes hétérozygotes ou thalassémies mineures, ne donnent pas de manifestation clinique.
    - Les formes homozygotes donnent, selon la gravité symptomatiaque:
          - des thalassémies intermédiaires, ne nécessitant pas de transfusions régulières
          - des thalassémies majeures imposant un traitement transfusionnel



Histoire naturelle


Dans la ß thalassémie, l ’excès relatif de production des chaînes alpha entraîne leur précipitation. Ces précipités sont toxiques pour les érythroblastes: il se constitue une anémie précoce par dysérythropoïèse. Celle-ci entraîne une hypersécrétion d ’érythropoïétine, d ’où prolifération massive de la moelle osseuse: fractures, déformation des os du crânes, compressions médullaires…

Il existe également un retard de croissance, une cardiomégalie, une hépatosplénomégalie (cause de thrombopénie et de neutropénie, d ’où risque infectieux)

Non traitée, la maladie est mortelle avant 4 ans.



Traitement transfusionnel


    - Principe: culot globulaire toutes les 4 à 6 semaines, pour maitnenir l ’Hb entre 9 et 12 g/dl
    - La splénectomie peut être un complément utile (disparition de l ’hypersplénisme) mais n’est pas recommandée avant 5 ans (risque infectieux)
    - Régulièrement transfusés, les enfants grandissent normalement, mais sont atteints d’hémochromatose.



Hémochromatose


    - L ’hémochromatose entraîne dès la deuxième décennie:
          - des troubles cardiaques (Insuf card, arythmie, péricardites)
          - des troubles endocriniens (hypogonadisme, diabète, hypothyroïdie, hypoparathyroïdie)
          - une fibrose hépatique et une cirrhose
          - non prévenue, l ’hémochromatose conuit au décès entre 20 et 30 ans.



Chélateurs du fer


    - La prévention de l ’hémochromatose repose sur la deferoxamine (DESFERAL).
    - Traitement débuté si ferritine sup à 1000 mcg/l
    - Voie SC, 8 à 12 h par nuit, pompe programmable
    - Objectif: maintenir la ferritine en dessous de 1000
    - effets secondaires de la deféroxamine
          - Anomalies osseuses des métaphyses des os longs, des vertèbres
          - ralentissement de la croissance
          - risque infectieux (en particulier yersinia)
    - On attend beaucoup des chélateurs par voie orale (défériprone FERRIPROX), encore mal évalués



Les autres voies thérapeutiques


Traitement curatif par greffe de moelle:

quand un donneur compatible existe. Le choix de la greffe est difficile car il existe une mortalité post greffe non négligeable (réaction greffon contre hôte)

L ’hydroxyurée (HYDREA)
pourrait réactiver la production des chaînes gamma

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